Temperature modulation of DHPLC analysis for detection of coexisting constitutional and mosaic sequence variants in TSC2

Antonarakis, Emmanuel S., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458 2002. Temperature modulation of DHPLC analysis for detection of coexisting constitutional and mosaic sequence variants in TSC2. Journal of Biochemical and Biophysical Methods 51 (2) , pp. 161-164. 10.1016/S0165-022X(02)00011-8

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Abstract

Somatic mosaicism is a frequent phenomenon in Mendelian disorders that exhibit a high proportion of new mutations. However, mutant alleles present at low frequency may escape detection. We have previously shown that denaturing high-performance liquid chromatography (DHPLC) at the recommended melt temperature can detect TSC1 and TSC2 mutations in tuberous sclerosis patients with low-level somatic mosaicism, even when direct sequencing cannot identify the causative lesion. Here, we report the use of temperature modulation in DHPLC analysis to facilitate the robust detection of a mosaic mutation, N1643K, in the presence of a coexisting constitutional polymorphism.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Schools > Medicine
Subjects:	R Medicine > R Medicine (General)
Uncontrolled Keywords:	DHPLC; TSC2; temperature modulation; mosaicism.
Publisher:	Elsevier
ISSN:	0165-022X
Last Modified:	25 Oct 2022 09:51
URI:	https://orca.cardiff.ac.uk/id/eprint/60295

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